Linked Data
ClinVar Variation Id:
1082335
ClinVar RCV Id:
RCV001398610
dbSNP Id:
rs750582359
ExAC:
5:118814679 T / C
gnomAD v2:
5-118814679-T-C
gnomAD v3:
5-119478984-T-C
gnomAD v4:
5-119478984-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.119478984T>C , CM000667.2:g.119478984T>C | GRCh38 |
| NC_000005.9:g.118814679T>C , CM000667.1:g.118814679T>C | GRCh37 |
| NC_000005.8:g.118842578T>C | NCBI36 |
| NG_008182.1:g.31532T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000509514.6:c.585T>C | ENSP00000426272.2:p.Asn195= | |
| ENST00000518349.6:c.113-17559T>C | ENSP00000507185.1:n.113-17559T>C | |
| ENST00000682445.1:c.*466T>C | ENSP00000508061.1:n.*466T>C | |
| ENST00000682531.1:n.686T>C | ||
| ENST00000682626.1:c.*91T>C | ENSP00000507857.1:n.*91T>C | |
| ENST00000682996.1:c.585T>C | ENSP00000507792.1:p.Asn195= | |
| ENST00000683265.1:n.678T>C | ||
| ENST00000683371.1:c.*715T>C | ENSP00000508376.1:n.*715T>C | |
| ENST00000683390.1:n.2275T>C | ||
| ENST00000683549.1:n.506T>C | ||
| ENST00000683936.1:c.*470T>C | ENSP00000507721.1:n.*470T>C | |
| ENST00000683974.1:n.667T>C | ||
| ENST00000683996.1:c.174T>C | ENSP00000507060.1:p.Asn58= | |
| ENST00000684131.1:n.424T>C | ||
| ENST00000684160.1:c.*275T>C | ENSP00000507821.1:n.*275T>C | |
| ENST00000684214.1:c.585T>C | ENSP00000508071.1:p.Asn195= | |
| ENST00000414835.7:c.660T>C | ENSP00000411960.3:p.Asn220= | |
| ENST00000510025.7:c.585T>C MANE Select | ENSP00000424940.3:p.Asn195= | |
| ENST00000643250.1:c.*457T>C | ENSP00000494737.1:n.*457T>C | |
| ENST00000644146.1:c.*163T>C | ENSP00000494808.1:n.*163T>C | |
| ENST00000645099.1:c.144T>C | ENSP00000496091.1:p.Asn48= | |
| ENST00000645702.1:c.174T>C | ENSP00000496432.1:p.Asn58= | |
| ENST00000645832.1:c.*470T>C | ENSP00000494316.1:n.*470T>C | |
| ENST00000646058.1:c.585T>C | ENSP00000493579.1:p.Asn195= | |
| ENST00000646355.1:c.*591T>C | ENSP00000493801.1:n.*591T>C | |
| ENST00000646554.1:c.*563T>C | ENSP00000494542.1:n.*563T>C | |
| ENST00000647335.1:c.*552T>C | ENSP00000495180.1:n.*552T>C | |
| ENST00000647342.1:c.*516T>C | ENSP00000494992.1:n.*516T>C | |
| ENST00000256216.10:c.585T>C | ENSP00000256216.6:p.Asn195= | |
| ENST00000414835.6:c.165T>C | ENSP00000411960.2:p.Asn55= | |
| ENST00000442060.7:c.585T>C | ENSP00000390208.3:p.Asn195= | |
| ENST00000503168.5:n.574T>C | ||
| ENST00000504811.5:c.660T>C | ENSP00000420914.1:p.Asn220= | |
| ENST00000505181.5:n.288T>C | ||
| ENST00000509514.5:c.-300T>C | ENSP00000426272.1:n.-300T>C | |
| ENST00000510025.5:c.513T>C | ENSP00000424940.1:p.Asn171= | |
| ENST00000512644.1:n.153T>C | ||
| ENST00000513628.5:c.174T>C | ENSP00000425993.1:p.Asn58= | |
| ENST00000515235.6:n.645T>C | ||
| ENST00000515320.5:c.531T>C | ENSP00000424613.1:p.Asn177= | |
| NM_000414.3:c.585T>C | NP_000405.1:p.Asn195= | |
| NM_001199291.2:c.660T>C | NP_001186220.1:p.Asn220= | |
| NM_001199292.1:c.531T>C | NP_001186221.1:p.Asn177= | |
| NM_001292027.1:c.513T>C | NP_001278956.1:p.Asn171= | |
| NM_001292028.1:c.165T>C | NP_001278957.1:p.Asn55= | |
| NM_000414.4:c.585T>C MANE Select | NP_000405.1:p.Asn195= | |
| NM_001199291.3:c.660T>C | NP_001186220.1:p.Asn220= | |
| NM_001199292.2:c.531T>C | NP_001186221.1:p.Asn177= | |
| NM_001292027.2:c.513T>C | NP_001278956.1:p.Asn171= | |
| NM_001292028.2:c.165T>C | NP_001278957.1:p.Asn55= | |
| NM_001374497.1:c.576T>C | NP_001361426.1:p.Asn192= | |
| NM_001374498.1:c.585T>C | NP_001361427.1:p.Asn195= | |
| NM_001374499.1:c.258T>C | NP_001361428.1:p.Asn86= | |
| NM_001374500.1:c.144T>C | NP_001361429.1:p.Asn48= | |
| NM_001374501.1:c.174T>C | NP_001361430.1:p.Asn58= | |
| NM_001374502.1:c.174T>C | NP_001361431.1:p.Asn58= | |
| NM_001374503.1:c.174T>C | NP_001361432.1:p.Asn58= | |
| NR_164653.1:n.664T>C | ||
| NR_164654.1:n.852T>C |